Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_assertion description "[Both patients had PDH deficiency caused by a new mutation (G585C) in the PDHA1 gene, which is predicted to replace a highly conserved glycine at codon 195 by alanine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_assertion evidence source_evidence_literature NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_assertion SIO_000772 18504677 NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_assertion wasDerivedFrom befree-2016 NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_assertion wasGeneratedBy ECO_0000203 NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.
- befree-2016 importedOn "2016-02-19" NP673272.RAQNOopD7A-Jc_XyE-JwONBiXKIgiZ7dIDNJ8FqCdnAwc130_provenance.